SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64805852_64805881delinsGCCCCCAGGGGCTGGGGGAGTAGGTGGGGT , CM000673.2:g.64805852_64805881delinsGCCCCCAGGGGCTGGGGGAGTAGGTGGGGT | GRCh38 |
| NC_000011.9:g.64573324_64573353delinsGCCCCCAGGGGCTGGGGGAGTAGGTGGGGT , CM000673.1:g.64573324_64573353delinsGCCCCCAGGGGCTGGGGGAGTAGGTGGGGT | GRCh37 |
| NC_000011.8:g.64329900_64329929delinsGCCCCCAGGGGCTGGGGGAGTAGGTGGGGT | NCBI36 |
| NG_008929.1:g.10414_10443delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC , LRG_509:g.10414_10443delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | |
| NG_033040.1:g.2361_2390delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377313.7:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000366530.1:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000394374.8:c.*358-111_*358-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000377899.4:n.*358-111_*358-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000394376.7:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000377901.3:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000413626.2:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000411218.2:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000424912.2:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000388016.2:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000429702.6:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000402752.2:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000672079.2:c.*146-111_*146-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000500905.2:n.*146-111_*146-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000710881.1:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000518530.1:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000394374.7:c.797-111_797-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ||
| ENST00000394376.6:c.401-111_401-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ||
| ENST00000478548.3:n.1432_1461delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ||
| ENST00000671939.2:n.1012-111_1012-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ||
| ENST00000671965.2:n.1432-111_1432-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ||
| ENST00000312049.11:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000308975.6:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000315422.9:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000323747.4:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000377313.6:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000366530.1:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000440873.6:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000413944.2:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000450708.7:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC MANE Select | ENSP00000394933.3:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000478548.2:n.1440_1469delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ||
| ENST00000671939.1:n.1327-111_1327-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ||
| ENST00000672079.1:c.925-111_925-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ||
| ENST00000672304.1:c.1175+7_1175+36delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000500585.1:n.1175+7_1175+36delinsACCCCACCTACTCCCCCAGCC... | |
| ENST00000312049.10:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000308975.6:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000315422.8:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000323747.4:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000337652.5:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000337088.1:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000377313.5:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000366530.1:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000377316.6:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000366533.1:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000377321.5:c.945-111_945-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000366538.1:n.945-111_945-82delinsACCCCACCTACTCCCCCAGCC... | |
| ENST00000377326.7:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000366543.3:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000394374.6:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000377899.2:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000394376.5:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ENSP00000377901.1:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAG... | |
| ENST00000478548.1:n.488_517delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ||
| ENST00000487019.1:n.105+7_105+36delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | ||
| NM_000244.3:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC , LRG_509t1:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_000235.2:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTG... | |
| NM_130799.2:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC , LRG_509t2:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_570711.1:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTG... | |
| NM_130800.2:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_570712.1:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTG... | |
| NM_130801.2:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_570713.1:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTG... | |
| NM_130802.2:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_570714.1:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTG... | |
| NM_130803.2:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_570715.1:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTG... | |
| NM_130804.2:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_570716.1:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTG... | |
| XM_005274001.3:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | XP_005274058.1:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCC... | |
| XM_011545040.1:c.1175+7_1175+36delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | XP_011543342.1:n.1175+7_1175+36delinsACCCCACCTACTCCCCCAGCCCCT... | |
| XM_011545041.1:c.1175+7_1175+36delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | XP_011543343.1:n.1175+7_1175+36delinsACCCCACCTACTCCCCCAGCCCCT... | |
| XM_011545042.1:c.1175+7_1175+36delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | XP_011543344.1:n.1175+7_1175+36delinsACCCCACCTACTCCCCCAGCCCCT... | |
| XM_005274001.4:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | XP_005274058.1:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCC... | |
| XM_011545041.2:c.1175+7_1175+36delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | XP_011543343.1:n.1175+7_1175+36delinsACCCCACCTACTCCCCCAGCCCCT... | |
| XM_011545042.3:c.1175+7_1175+36delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | XP_011543344.1:n.1175+7_1175+36delinsACCCCACCTACTCCCCCAGCCCCT... | |
| XM_017017765.1:c.1190+7_1190+36delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | XP_016873254.1:n.1190+7_1190+36delinsACCCCACCTACTCCCCCAGCCCCT... | |
| XM_017017766.1:c.1190+7_1190+36delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | XP_016873255.1:n.1190+7_1190+36delinsACCCCACCTACTCCCCCAGCCCCT... | |
| XM_017017767.2:c.1190+7_1190+36delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | XP_016873256.1:n.1190+7_1190+36delinsACCCCACCTACTCCCCCAGCCCCT... | |
| XM_017017768.1:c.1190+7_1190+36delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | XP_016873257.1:n.1190+7_1190+36delinsACCCCACCTACTCCCCCAGCCCCT... | |
| XM_017017769.1:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | XP_016873258.1:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCC... | |
| XM_017017770.2:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | XP_016873259.1:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCC... | |
| NM_001370251.1:c.1175+7_1175+36delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_001357180.1:n.1175+7_1175+36delinsACCCCACCTACTCCCCCAGCCCCT... | |
| NM_001370259.2:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC MANE Select | NP_001357188.2:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCC... | |
| NM_001370260.1:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_001357189.1:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCC... | |
| NM_001370261.1:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_001357190.1:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCC... | |
| NM_001370262.1:c.945-111_945-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_001357191.1:n.945-111_945-82delinsACCCCACCTACTCCCCCAGCCCCT... | |
| NM_001370263.1:c.945-111_945-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_001357192.1:n.945-111_945-82delinsACCCCACCTACTCCCCCAGCCCCT... | |
| NM_000244.4:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_000235.3:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTG... | |
| NM_001370251.2:c.1175+7_1175+36delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_001357180.2:n.1175+7_1175+36delinsACCCCACCTACTCCCCCAGCCCCT... | |
| NM_001370260.2:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_001357189.2:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCC... | |
| NM_001370261.2:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_001357190.2:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCC... | |
| NM_001370262.2:c.945-111_945-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_001357191.2:n.945-111_945-82delinsACCCCACCTACTCCCCCAGCCCCT... | |
| NM_001370263.2:c.945-111_945-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_001357192.2:n.945-111_945-82delinsACCCCACCTACTCCCCCAGCCCCT... | |
| NM_130799.3:c.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_570711.2:n.1050-111_1050-82delinsACCCCACCTACTCCCCCAGCCCCTG... | |
| NM_130800.3:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_570712.2:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTG... | |
| NM_130801.3:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_570713.2:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTG... | |
| NM_130802.3:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_570714.2:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTG... | |
| NM_130803.3:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_570715.2:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTG... | |
| NM_130804.3:c.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTGGGGGC | NP_570716.2:n.1065-111_1065-82delinsACCCCACCTACTCCCCCAGCCCCTG... |